Canonical Allele Identifier: CA384676326

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137703980
• MyVariant Identifiers: chr12:g.49415912G>A (hg19) ; chr12:g.49022129G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022129G>A , CM000674.2:g.49022129G>A	GRCh38
NC_000012.11:g.49415912G>A , CM000674.1:g.49415912G>A	GRCh37
NC_000012.10:g.47702179G>A	NCBI36
NG_027827.1:g.38196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.405C>T
ENST00000681974.1:n.1107C>T
ENST00000682693.1:n.2069C>T
ENST00000682886.1:n.841C>T
ENST00000683543.2:c.16483C>T	ENSP00000506726.1:p.Pro5495Ser
ENST00000683988.1:c.406C>T	ENSP00000506939.1:p.Pro136Ser
ENST00000684428.1:c.1028C>T	ENSP00000507433.1:n.1028C>T
ENST00000685024.1:c.1589C>T
ENST00000685166.1:c.16444C>T	ENSP00000509386.1:p.Pro5482Ser
ENST00000691932.1:c.436C>T	ENSP00000509037.1:p.Pro146Ser
ENST00000692637.1:c.16432C>T	ENSP00000509666.1:p.Pro5478Ser
ENST00000301067.12:c.16435C>T MANE Select	ENSP00000301067.7:p.Pro5479Ser
ENST00000301067.11:c.16435C>T	ENSP00000301067.7:p.Pro5479Ser
ENST00000526209.1:c.478C>T	ENSP00000435714.1:p.Pro160Ser
NM_003482.3:c.16435C>T	NP_003473.3:p.Pro5479Ser
XM_005269162.3:c.16435C>T	XP_005269219.1:p.Pro5479Ser
XM_006719614.2:c.16444C>T	XP_006719677.1:p.Pro5482Ser
XM_006719616.2:c.16432C>T	XP_006719679.1:p.Pro5478Ser
XM_011538770.1:c.16492C>T	XP_011537072.1:p.Pro5498Ser
XM_011538771.1:c.16489C>T	XP_011537073.1:p.Pro5497Ser
XM_011538772.1:c.16483C>T	XP_011537074.1:p.Pro5495Ser
XM_011538773.1:c.16480C>T	XP_011537075.1:p.Pro5494Ser
XM_011538774.1:c.16471C>T	XP_011537076.1:p.Pro5491Ser
XM_011538775.1:c.16426C>T	XP_011537077.1:p.Pro5476Ser
XM_011538776.1:c.16399C>T	XP_011537078.1:p.Pro5467Ser
XM_005269162.4:c.16435C>T	XP_005269219.1:p.Pro5479Ser
XM_006719614.4:c.16444C>T	XP_006719677.1:p.Pro5482Ser
XM_006719616.3:c.16432C>T	XP_006719679.1:p.Pro5478Ser
XM_011538770.2:c.16492C>T	XP_011537072.1:p.Pro5498Ser
XM_011538771.2:c.16489C>T	XP_011537073.1:p.Pro5497Ser
XM_011538772.2:c.16483C>T	XP_011537074.1:p.Pro5495Ser
XM_011538773.2:c.16480C>T	XP_011537075.1:p.Pro5494Ser
XM_011538774.2:c.16471C>T	XP_011537076.1:p.Pro5491Ser
XM_011538776.2:c.16399C>T	XP_011537078.1:p.Pro5467Ser
XR_001748874.1:n.16612C>T
NM_003482.4:c.16435C>T MANE Select	NP_003473.3:p.Pro5479Ser